Hepatoblastoma in an infant with paternal uniparental disomy 14

Abstract

A 29-year-old primigravida developed polyhydramnios at 24 weeks of gestation, requiring six serial amnioreductions. In addition, prenatal ultrasound examinations revealed a fetus with small stomach pouch, small thorax, slightly shortened limbs, and skin edema; paternal uniparental disomy 14(upd(14)pat) phenotype was suspected. At 37 weeks, the patient delivered a 2558 g female infant with characteristic facial features, webbed neck, thoracic deformity, abdominal wall defect, skin edema, overlapping fingers, placentomegaly, and small thorax with 'coat-hanger' appearance of the ribs on chest X-ray. A phenotype consistent with upd(14)pat was confirmed by DNA analysis. Although the infant's condition was initially stable, hepatoblastoma was subsequently detected and right hepatectomy was performed on day 224. On day 382, the infant was discharged with in-home respiratory management.

Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome

“…Notably, in many cases, several amnioreductions were required . A small or empty stomach pouch has also been described before . In our case, an empty stomach on several US examinations was noticed, which retrospectively can be interpreted as an early sign of impaired swallowing due to neuromuscular deficiency.…”

Modified Nuss procedure for severe thoracic deformity associated with paternal uniparental disomy 14: Report of a case

“…Paternal uniparental disomy 14 (pUPD14) is a rare condition [1]. Typically, pUPD14 presents with distinctive facial abnormalities, a small chest and 'coat-hanger' ribs, ventral abdominal wall defects, placentomegaly, and polyhydramnios [3,4].…”

“…PUPD14 is characterized by facial abnormalities, respiratory problems associated with a small chest and so-called 'coat-hanger' ribs, and ventral abdominal wall defects in the neonatal period [3,4]. The respiratory symptoms show spontaneous improvement over time [1].…”

“…Paternal uniparental disomy 14 (pUPD14) is rare condition and it is estimated that there have been about 30 cases in Japan [1]. Uniparental disomy (UPD) means that both copies of a pair of chromosomes are inherited from the same parent [2].…”

Das Kagami-Ogata-Syndrom: Eine Rippenanomalie als pathognomonisches Korrelat für die klinische Diagnose eines (epi)genetischen Syndroms

“…Bisher sind 3 Patienten mit einer UPD14pat beschrieben worden, bei denen im Alter von 2, 8 und 13 Monaten ein Hepatoblastom diagnostiziert wurde [4,15]. Embryonale Tumoren, Bauchwanddefekte und eine pränatale Makrosomie sind sowohl für das KOS14 als auch für das Beckwith-Wiedemann-Syndrom (BWS) typisch, sodass Überlappungen zwischen diesen beiden Imprinting-Störungen nach dem heutigen Wissensstand nicht ausgeschlossen werden können und wir von einem ähnlich hohen Risiko für eine Neoplasie bei unseren Patienten ausgehen mussten [4].…”